Table 6. Sensitivity, specificity, positive- and negative-predictive values of variant genotypes significantly associated with toxicity.
Variant | Toxicity and grade | Genotype | Sensitivity | Specificity | Positive-predictive value | Negative-predictive value |
---|---|---|---|---|---|---|
All fluoropyrimidine-treated patients | ||||||
c.1601G>A | DMN 3–4 | wt vs het | 14 | 100 | >99 | 78 |
c.1905+1G>A | DMN 3–4 | wt vs het | 3 | 100 | >99 | 76 |
c.2846A>T | DMN 3–4 | wt vs het | 4 | 100 | >99 | 77 |
c.1679T>G | DMN 3–4 | wt vs het | 1 | 100 | >99 | 76 |
c.1601+1905+2846+1679 variant | DMN 3–4 | wt vs het+compound het | 23 | 100 | >99 | 80 |
c.1129-5923C>G | DMN 3–4 | wt vs het | 6 | 97 | 40 | 76 |
TYMS 3′-UTR c.1494del6b | DMN 3–4 | wt vs hom | 47 | 54 | 25 | 76 |
TYMS 3′-UTR c.1494del6b |
DMN 3–4 |
wt vs het and hom |
81 |
9 |
22 |
59 |
Capecitabine-treated patients | ||||||
CDA c.−92 A>G c.−451C>T | Diarrhoea 2–4 | wt vs het and hom | 61 | 58 | 40 | 77 |
MTHFR 1298CC | HF 2–3 | wt vs hom | 26 | 96 | 64 | 82 |
MTHFR 1298A>C | HF 2–3 | wt vs het and hom | 55 | 49 | 24 | 79 |
Abbreviations: DMN=diarrhoea, mucositis and neutropaenia; HF=hand–foot syndrome; UTR=untranslated region.